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An inappropriate decline in ribosome levels drives a diverse set of neurodevelopmental disorders.
Ni C, Yu L, Vona B, Park D, Wei Y, Schmitz DA, Wei Y, Ding Y, Sakurai M, Ballard E, Liu Y, Kumar A, Xing C, Kim HG, Ekmekci C, Karimiani EG, Imannezhad S, Eghbal F, Badv RS, Schwaibold EMC, Dehghani M, Mehrjardi MYV, Metanat Z, Eslamiyeh H, Khouj E, Alhajj SMN, Chedrawi A, Alves CAPF, Houlden H, Kruer M, Alkuraya FS, Cenik C, Maroofian R, Wu J, Buszczak M. Ni C, et al. Among authors: alhajj smn. bioRxiv [Preprint]. 2024 Jan 9:2024.01.09.574708. doi: 10.1101/2024.01.09.574708. bioRxiv. 2024. PMID: 38260472 Free PMC article. Preprint.
A founder DBR1 variant causes a lethal form of congenital ichthyosis.
Shamseldin HE, Sadagopan M, Martini J, Al-Ali R, Radefeldt M, Ataei M, Lemke S, Rahbeeni Z, Al Mutairi F, Ababneh F, AlRukban HA, Abdulwahab F, Alhajj SM, Bauer P, Bertoli-Avella A, Alkuraya FS. Shamseldin HE, et al. Among authors: alhajj sm. Hum Genet. 2023 Oct;142(10):1491-1498. doi: 10.1007/s00439-023-02597-3. Epub 2023 Sep 1. Hum Genet. 2023. PMID: 37656279